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Valparaiso University

Nephrology

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Full-Text Articles in Pathology

Paroxysmal Nocturnal Hemoglobinuria: Pandora’S Box?, Mihnea Alexandru Găman, Iulia Ursuleac, Daniel Coriu Sep 2020

Paroxysmal Nocturnal Hemoglobinuria: Pandora’S Box?, Mihnea Alexandru Găman, Iulia Ursuleac, Daniel Coriu

Journal of Mind and Medical Sciences

Introduction. Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired non-malignant hematological disorder which affects the pluripotent hematopoietic stem cell. The cause of PNH development is the occurrence of somatic mutations in the phosphatidylinositol glycan-A gene which encodes a protein necessary for the biosynthesis of glycosylphosphatidylinositol anchors. The diagnosis of PNH requires the presence of signs of intravascular hemolysis, thrombosis, and (or) bone marrow failure. Case Report. We report the case of a 42-year-old female, diagnosed with PNH at the age of 27, whose evolution was initially characterized predominantly by hemolytic attacks and whose disease pattern evolved towards thromboembolic episodes …